A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193958



Internal ID20760998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5818174..5826409hg38UCSC Ensembl
chr12:5927340..5935575hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg388236
hg198236
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458546
Supporting Variants
Samples
Known GenesANO2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193958
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer